E12E (p.Glu12Glu) variant of GJA5 (Gap junction alpha-5 protein)
E12E (p.Glu12Glu) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and published literature.
E12E (p.Glu12Glu) variant details
- p.Glu12Glu
- gnomAD 1-147759203-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 5.49
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Literature evidence available